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Epileptic seizures, arthrogryposis, and migrational brain disorders: a syndrome?
E Brodtkorb1, T Torbergsen, K O Nakken
1Department of Neurology, Trondheim University Hospitals, Norway.
Introduction:
Arthrogryposis multiplex congenita (AMC) may be associated with multiple developmental defects. In some severely affected newborns with AMC, autopsy studies have suggested a common mechanism of malmigration at the spinal and cerebral levels. To our knowledge, a constellation of arthrogryposis, epileptic seizures, and brain migrational anomalies in adult patients has not previously been described in a clinical material.
Material And Methods:
Six consecutive adult patients with arthrogryposis multiplex congenita and epileptic seizures form the basis of the present study. Five patients had joint contractures and reduced muscle volume restricted to the lower extremities, whereas one patient had predominantly upper extremity affection. They were studied with magnetic resonance imaging (MRI), EEG, EMG, a neuropsychological test battery, and chromosome analysis.
Results:
Four of them had clear evidence of migrational brain disorders, demonstrated by MRI, in three of them roughly corresponding to the focal epileptiform EEG activity. Five of the patients had partial seizures, whereas one only had generalized tonic-clonic seizures. The MRI findings included polymicrogyria, pachygyria, and fused schizencephaly. Four had neurogenic EMG changes, one had myopathic EMG features, and one had an unremarkable EMG pattern in affected muscles. All patients with demonstrable migrational disorders showed abnormal neuropsychological features. Three patients were mentally retarded. A chromosome abnormality in the form of a ring chromosome 18 was present in one patient.
Conclusion:
We suggest that AMC, epileptic seizures, and migrational brain disorders may form the integral parts of a hitherto undescribed syndrome in adults. A wide-spread defect in neuronal migration along the entire neural axis may be the underlying mechanism of the cerebral and the peripheral symptoms.
Insights
Arthrogryposis multiplex congenita (AMC) with epileptic seizures and brain migrational disorders may represent a new adult syndrome. This suggests a widespread neuronal migration defect affecting both brain and peripheral nerves.
Area of Science:
- Neurology
- Developmental Biology
- Genetics
Background:
- Arthrogryposis multiplex congenita (AMC) can involve multiple developmental defects.
- Autopsy studies suggest spinal and cerebral malmigration in severe neonatal AMC.
- This constellation has not been previously described in adult clinical material.
Observation:
- Six adult patients with AMC and epileptic seizures were studied.
- Clinical presentation included joint contractures and muscle volume reduction, predominantly in lower extremities.
- Diagnostic methods included MRI, EEG, EMG, neuropsychological testing, and chromosome analysis.
Findings:
- Four patients exhibited brain migrational disorders (polymicrogyria, pachygyria, schizencephaly) on MRI.
- EEG showed focal epileptiform activity in three patients, correlating with MRI findings.
- EMG revealed neurogenic changes in four patients, myopathic in one, and unremarkable in one.
- All patients with migrational disorders had abnormal neuropsychological features, with three showing intellectual disability.
- One patient had a chromosome abnormality (ring chromosome 18).
Implications:
- AMC, epilepsy, and brain migrational disorders may constitute a novel adult syndrome.
- A pervasive defect in neuronal migration across the neural axis could explain both central and peripheral symptoms.
- This finding expands the understanding of AMC's potential neurological manifestations in adulthood.